A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv804157



Internal ID15751427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124737381..125019207hg38UCSC Ensembl
Innerchr12:125221927..125503753hg19UCSC Ensembl
Innerchr12:123787880..124069706hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38281827
hg19281827
hg18281827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560595
Supporting Variants
Samples
Known GenesBRI3BP, DHX37, MIR5188, SCARB1, UBC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv804157
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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